PRM2 G398C多态性与386例汉族男性生育力的相关性研究

Association study of PRM2 gene polymorphism with male infertility in the 386 Chinese Han population

目的 研究鱼精蛋白2（PRM2）基因G398C多态性与汉族男性生育力的相关性。方法 选取386例原发不育男性患者为观察组,255例生育男性为对照组,分别分析两组常规精液参数及DNA完整性、核蛋白成熟度等精子功能参数,采用DNA测序技术对PRM2G398C位点进行基因分型,统计该多态性位点与男性不育发病率的关系。结果 不育患者PRM2G398C位点CC基因型频率（11.92%）高于生育男性（6.67%）,分析显示CC基因型与男性不育的遗传易感性明显相关（OR=2.002,95%CI=1.097~3.653,P〈0.05）。CC基因型可使精子DNA完整性、核蛋白成熟度等精子功能参数明显下降,可能是其导致男性不育的主要因素。结论 PRM2G398C多态性改变与汉族男性生育力相关。

Objective To determine the association of one single nucleotide polymorphism loci G398C in PRM2 with male infertility in Chinese Han population. Methods A total of 386 infertile men were recruited as the observation group and 255 fertile men were recruited as the control group. Routine semen analysis as well as sperm functional parameters such as DNA integrity and nucleoprotein maturity rates were analyzed. Direct sequencing of G398C in PRM2 gene of infertile and fertile men was also conducted to evaluate the association of G398C SNP loci with male infertility. Results Statistical analysis showed that the frequencies of CC genotype of PRM2 G398C was significantly different between the infertile （11.92%） and fertile men （6.67%） and it was associated with increased risk of male infertility （OR = 2. 002,95% CI = 1. 097- 3. 653, P〈 0.05）. Moreover, it was discovered that sperm DNA integrity as well as nucleoprotein maturity rate of CC genotype were dramatically decreased compared with other genotypes （P〈0. 05） ,which would probably lead to infertility. Conclusion Our results gave the first evidence that PRM2 G398C polymorphism was associated with male infertility in Chinese Han population.